Clinical and neurological findings of a patient with a complex chromosome 5 alteration

Context: Inversion-duplication-deletion (invdupdel) involving the short arm of chromosome 5 is considered a complex and extremely rare alteration. Case report: A female patient was born prematurely at 32 weeks and was delivered by cesarean section, weighing 2,086 grams, with an Apgar score in the fifth minute of 7. After birth, she needed invasive mechanical ventilation. A nasofibrolaryngoscopy was performed, which revealed the rear projection of the tongue base. The speech-language evaluation showed a swallowing disorder. The patient needed to be tracheostomized and evolved with episodes of cardiorespiratory arrest. A zone 2 of immaturity was identified in both eyes. Then, gastroesophageal reflux was also diagnosed. Cerebral ultrasound showed moderate lateral ventricles dilation. High resolution GTG-banding karyotype identified an inverted and partial duplication of the chromosome’s 5 short arm, with a probable deletion of its distal segment: 46,XX,invdup(5) (p13.3->p15.33:: p15.33->qter) [23]. The parents’ karyotype was normal. At 2 months, the patient had dolichocephaly; bitemporal narrowing; hypertelorism; and down slanting palpebral fissures with blepharophimosis; low-set and posteriorly rotated ears; leftover skin at neck and bilateral plantar creases between the first, second and third toes. Conclusions: Invdupdel of the short arm of chromosome 5 is a very rare chromosomal alteration. Neurological findings seem to be part of its clinical manifestations, especially dilated lateral ventricles. More reports will be essential for understanding its clinical spectrum.